Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

✍ Scribed by Schoenmakers, N; Sun, Y; Bak, B; van Trotsenburg, ASP; Oostdijk, W; Voshol, P; Cambridge, E; White, JK; le Tissier, P; Gharavy, SNM; Martinez-Barbera, JP; Stokvis-Brantsma, WH; Vulsma, T; Kempers, MJ; Persani, L; Campi, I; Bonomi, M; Beck-Peccoz, P; Zhu, H; Davis, TME; Hokken-Koelega, ACS; Del Blanco, D Gorbenko; Rangasami, JJ; Ruivenkamp, CAL; Laros, JFJ; Kriek, M; Kant, SG; Bosch, CAJ; Biermasz, NR; Appelman-Dijkstra, NM; Corssmit, EP; Hovens, GCJ; Pereira, AM; den Dunnen, JT; Wade, MG; Breuning, MH; Hennekam, RC; Dattani, MT; Wit, JM; Bernard, DJ; Chatterjee, K

• Book ID: 122600133
• Publisher: The Lancet
• Year: 2013
• Tongue: English
• Weight: 48 KB
• Volume: 381
• Category: Article
• ISSN: 0140-6736
• DOI: 10.1016/S0140-6736(13)60455-9